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"Ms. Montgomery?" a voice asked.
Laurie looked up into the smiling face of a woman half her age. She was dressed in a simple white sweater with a single strand of pearls around her neck. Over her sweater was a clean white coat. In her left hand was a clipboard tucked against her side. She had her right hand extended. "I'm A
Laurie got to her feet and shook the woman's hand. She then followed the woman through a side door and down a short hall. She was directed into a small, windowless room with a couch, two club chairs, a coffee table, and a file cabinet. Centered on the coffee table was a box of tissues.
A
"I appreciate you coming in on such short notice," A
Laurie smiled, but she could feel herself getting progressively impatient.
"I wanted to give you some background concerning what we do here in the genetic diagnostics lab," A
Laurie didn't comment or change her expression while she silently ordered A
"Now," A
Laurie nodded impatiently. She couldn't help but wonder how much A
A
At one point, Laurie even tuned the social worker out and concentrated on the woman's tics, which included, in addition to the almost constant sweeping of her hair behind her ear, a sustained blepharospasm when she was making a point. But Laurie's attention was drawn back to the woman when she started talking about single nucleotide polymorphisms, which she quickly began to refer to by using the acronym SNP. This was an arena of genetics that Laurie was not quite as knowledgeable about and had been learning about only recently.
"SNPs have become extremely important," A
"Why have they become so important?" Laurie found herself asking.
"Because there are now millions of them mapped across the whole human genome. They now stand as convenient markers that are linked hereditarily to specific abnormal genes. It is much easier to test for the marker than to isolate and sequence the affected gene, although we generally do both just to be one hundred percent sure. We want to be confident we are giving our patients the correct information."
"Right," Laurie said irritably. A
Seemingly oblivious to Laurie's mind-set and after consulting her clipboard, A
"With all due respect," Laurie said, trying to modulate her voice to sound calm, "there is one significant piece of information, which you either don't have or have forgotten. I happen to be a physician myself. I appreciate this background material, but I assume that the real reason I am here is because you have the results of my test. I want to know what they are. So, if you could be so kind, I would like you to tell me."
Flustered to a degree, A
"It's quite all right. Am I positive for the marker for the BRCA1 gene?"
"But we haven't talked about implications."
"I am aware of the implications, and any other questions that I might have, I will direct to my oncologist."
"I see," A
"I don't mean to sound unappreciative of your efforts," Laurie added, "but I need to know."
"Of course," A
Laurie looked away with unseeing eyes while she bit her lower lip. Although she fully expected the news, she could feel tears amassing on the emotional horizon. She fought against it as a matter of principle. She was determined not to use the tissues on the table in front of her. "Okay," Laurie heard herself say. She also heard A
Laurie stood up, gave A